| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000254719 |
| Start |
1888714:1888714(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs139432886
|
| CDS Mutation |
c.1414C>T |
| AA Mutation |
p.Arg472Cys(p.R472C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000254719 |
| Start |
1853161:1853161(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.333G>T |
| AA Mutation |
p.Lys111Asn(p.K111N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000254719 |
| Start |
1880652:1880652(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1202C>T |
| AA Mutation |
p.Ala401Val(p.A401V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |